Congenital erythropoietic porphyria

Congenital erythropoietic porphyria is one of the most rare inborn errors of metabolism and is caused by reduced activity in uroporphyrinogen cosynthetase located on chromosome 10q26. It is inherited as an autosomal-recessive trait (1).

It is characterised by vastly increased amounts of uroporphyrin in bone marrow, circulating erythrocytes, plasma, faeces and urine. Lesser amounts of corproporphyrin are found in the faeces but other pyrroles are excreted normally. Sufferers become disfigured, hairy and anaemic, and owing to extreme photosensitivity, tend to avoid sunlight.

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Reference:

1. Phillips JD et al. Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria. Blood 2007;109(6):2618-2621